Variant Results

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Results for "CCDC121"

Variant Events: 5

Gene Gene symbol on which the variant is located	ID Subject Identifier from the original study	Location Genomic location of the reference allele	REF Reference allele	ALT Alternate allele	Context Variant functional categories	Variant validation performed by an orthogonal method and reported	Inheritance Reported inheritance status	Effects Variant effect on transcript per Annovar	Transcript Transcript used for the cDNA/Protein mutation	cDNA cDNA variant notation	Protein Protein variant notation	CADD-Phred v1.0 CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores	ExAC v0.3 ExAC population frequency (version 0.3)	Sources Source(s) where variants from this event are reported
CCDC121	12467.p1	chr2: 27851481-27851481	T	G	exonic		De novo	synonymous SNV	NM_001142683	c.A150C	p.G50G	-	-	Satterstrom2020 E
CCDC121	1-0681-003	chr2: 27851709-27851709	C	A	UTR5		De novo					-	-	Trost2022 G Trost2022 G
CCDC121	3-0785-000	chr2: 27850223-27850223	C	G	exonic		De novo	nonsynonymous SNV	NM_001142683 NM_024584	c.G930C c.G444C	p.Q310H p.Q148H	14.98	-	Trost2022 G Zhou2022 GE
CCDC121	SSC04826	chr2: 27851481-27851481	T	G	exonic		De novo	synonymous SNV	NM_001142683	c.A150C	p.G50G	-	-	Lim2017 E Trost2022 G
CCDC121	C220403	chr2: 27850565-27850565	A	G	exonic		De novo	synonymous SNV	NM_001142683 NM_024584	c.T588C c.T102C	p.A196A p.A34A	-	-	Fu2022 E

Source Variant Information

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Paper Information

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Pubmed
Subject count	The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
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